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Known Diseases associated with this Protein: |  MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
| MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (MTDPS3)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_019417 | Disease | p.ARG142LYS | Mitochondrial DNA depletion syndrome 3 (MTDPS3) | | Swiss-Prot | VAR_019418 | Disease | p.GLU227LYS | Mitochondrial DNA depletion syndrome 3 (MTDPS3) | | Swiss-Prot | VAR_023789 | Disease | p.LEU250SER | Mitochondrial DNA depletion syndrome 3 (MTDPS3) | | OMIM | 601465.0005 | Disease | p.ARG142LYS | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | | OMIM | 601465.0002 | Disease | p.ARG105TER | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | | OMIM | 601465.0007 | Disease | p.ASP255TYR | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | | OMIM | 601465.0006 | Disease | p.GLU227LYS | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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23503050
DGUOK_HUMAN RecName: Full=Deoxyguanosine kinase, mitochondrial; Short=dGK; Flags: Precursor
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